Canonical Allele Identifier: CA2687989289
Gene: CFAP418 HGNC NCBI

Linked Data

gnomAD v4: 8-95260544-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.95260544G>T , CM000670.2:g.95260544G>T GRCh38
NC_000008.10:g.96272772G>T , CM000670.1:g.96272772G>T GRCh37
NC_000008.9:g.96341948G>T NCBI36
NG_032804.1:g.13691C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000286688.6:c.244-12C>A MANE Select ENSP00000286688.5:n.244-12C>A
ENST00000286688.5:c.244-12C>A ENSP00000286688.5:n.244-12C>A
NM_177965.3:c.244-12C>A NP_808880.1:n.244-12C>A
XM_005250799.2:c.583-12C>A XP_005250856.2:n.583-12C>A
NM_001363260.1:c.244-12C>A NP_001350189.1:n.244-12C>A
NM_177965.4:c.244-12C>A MANE Select NP_808880.1:n.244-12C>A
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